Exploring the severity and early onset of familial type 1 diabetes in Romania: genetic and microbiota insights.

Type 1 diabetes mellitus (T1DM) is a chronic condition characterized by pancreatic autoimmunity and destruction of the insulin producing beta-cells. The risk of familial type 1 diabetes (FT1DM) is greater in families with paternal T1DM. The children with paternal FT1DM have a more severe form of the disease with diabetic ketoacidosis.

Prenatal Features of MIRAGE Syndrome-Case Report and Review of the Literature.

MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in newborns and children with myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, hence the acronym MIRAGE.

Preconceptional Counseling in Women with Hyperthyroidism.

Preconception evaluation of couples wishing to conceive is an important step toward a healthy pregnancy and it is especially important in people with a chronic condition or at genetic risk. The most common endocrine disorders in women at reproductive age are those involving the thyroid gland and it is well recognized that hyperthyroidism (HT), over-function of the thyroid gland, is associated with risks of maternal, fetal, and neonatal complications. The aim of this paper is to review the latest evidence regarding the components of preconception counseling in women with HT that contemplate a pregnancy.

Diagnostic Criteria and Prognostic Relevance of Sarcopenia in Patients with Inflammatory Bowel Disease-A Systematic Review.

Background: Sarcopenia is a syndrome characteristic in elderly patients and is also associated with a significant proportion of chronic disorders such as inflammatory bowel disease (IBD). In this case, it can lead to a worse prognosis of the disease and a decreased quality of life.

Study Aim: This study aims to identify the best ways to diagnose sarcopenia in patients with IBD, establish its impact on the course of the disease, and find preventive methods to counteract the effects of sarcopenia in the outcome of patients with IBD and, therefore, minimize disabilities and increase the health-related quality of life (HRQoL).

The Significance of CD20 Intensity Variance in Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia.

B-cell precursor acute lyphoblastic leukemia (ALL) is a common pediatric malignancy and patients may have significant benefits from monoclonal antibodies therapy with increased survival rates. Positive CD20 expression is identified in about half of these patients and its presence may serve as a prognostic factor in disease evolution. We performed a retrospective study including 114 patients diagnosed with B-ALL and evaluated the expression of CD20 through flow cytometry at diagnosis and on day 15.

Preconception Counseling in Patients with Hypothyroidism and/or Thyroid Autoimmunity.

Preconception counseling is an essential tool for preventing adverse pregnancy outcomes associated with thyroid dysfunction. The high prevalence of thyroid disease among women of reproductive age, and the increased risk of adverse pregnancy outcomes associated with thyroid dysfunction, emphasize the necessity for well-established screening and treatment criteria in the preconception period. We therefore conducted a literature review for relevant information on the screening, diagnosis and treatment of subclinical and overt hypothyroidism in women seeking pregnancy.

Taurine and Its Derivatives: Analysis of the Inhibitory Effect on Platelet Function and Their Antithrombotic Potential.

Taurine is a semi-essential, the most abundant free amino acid in the human body, with a six times higher concentration in platelets than any other amino acid. It is highly beneficial for the organism, has many therapeutic actions, and is currently approved for heart failure treatment in Japan. Taurine has been repeatedly reported to elicit an inhibitory action on platelet activation and aggregation, sustained by in vivo, ex vivo, and in vitro animal and human studies.

Pheochromocytoma as a rare hypertensive complication rarely associated with pregnancy: Diagnostic difficulties (Review).

This review provides a brief clinically relevant review of pheochromocytoma in pregnancy, to raise awareness among doctors in obstetrics and the aim is to serve as the first point of reference when confronted by their presence. Pheochromocytomas are neuroendocrine, catecholamine-secreting tumours. Despite having the highest incidence rate among other hormone-secreting adrenal tumours, they remain rare especially when associated with pregnancy.

The dynamic changes in the pattern of liver function tests in pregnant obese women.

Obesity is an important problem in healthcare regarding gestating women. The objective of the present study was to highlight the impact that obesity has on the hepatic function in pregnant women by comparing the functional tests used in current practice. In addition, the aim was to identify possible predictors of liver damage by analyzing specific anthropometric data.

Effects of Exogenous Androgens on Platelet Activity and Their Thrombogenic Potential in Supraphysiological Administration: A Literature Review.

Anabolic androgenic steroids (AAS), simply called "androgens", represent the most widespread drugs used to enhance performance and appearance in a sporting environment. High-dosage and/or long-term AAS administration has been associated frequently with significant alterations in the cardiovascular system, some of these with severe endpoints. The induction of a prothrombotic state is probably the most life-threatening consequence, suggested by numerous case reports in AAS-abusing athletes, and by a considerable number of human and animal studies assessing the influence of exogenous androgens on hemostasis.

The impact of lifestyle factors on evolution of atopic dermatitis: An alternative approach.

Atopic dermatitis (AD) is a multifactorial chronic inflammatory disease with an incompletely understood etiopathogenesis. With a significant impact on the quality of life of patients, AD has attracted the interest of many research studies aiming to investigate the complex cellular and molecular mechanisms and to identify new therapeutic pathways. Various studies have focused on psycho-immunology, emphasizing the involvement of stress, defined as a general response of the body to external or internal challenges to the AD pathology.

Role of modern imaging techniques for the diagnosis of lichen planus.

Lichen planus (LP) is a chronic inflammatory skin disease that can sometimes affect mucosal surfaces, with unknown pathogenesis, even though it appears to be an autoimmune disease. The diagnosis of lichen planus is usually based on histopathological examination of the lesions. Nowadays, the classical invasive diagnostic methods are replaced by modern non-invasive techniques.

Role of stress in modulation of skin neurogenic inflammation.

There are complex interconnections between the nervous system and the skin highlighted by the impact of stress and neuroendocrine factors on various dermatological conditions. We investigated the influence of stress on skin neurogenic inflammation induced by capsaicin. A total of 31 healthy subjects were randomized into two groups: subjects in the stress group underwent a stress-inducing protocol and those in the control group were exposed to indifferent conditions.

The Central Role of Inflammation Associated with Checkpoint Inhibitor Treatments.

An important function of the immune system is its ability to differentiate between healthy cells in the organism and "foreign" cells, allowing the latest to be attacked and the first ones to be conserved. The most important molecules in this process are considered to be checkpoint inhibitors. This review is focused on the association between cancer and inflammation, underlying the mechanisms of action of monoclonal antibodies that are targeting checkpoint inhibitors: ipilimumab against cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and pembrolizumab and nivolumab against programmed cell death protein 1 (PD-1), their indications for treatment, and side effects.

Neuroendocrine Factors and Head and Neck Squamous Cell Carcinoma: An Affair to Remember.

Head and neck squamous cell carcinoma (HNSCC) is one of the most aggressive malignancies. Therefore, the major goal of cancer treatment is inhibition of tumor cell growth and of metastasis development. In order to choose the best management option for HNSCC patients, we need to identify reliable prognostic factors and to develop new molecular techniques in order to obtain a better understanding of therapy resistance.

Non-invasive imaging of actinic cheilitis and squamous cell carcinoma of the lip.

An early diagnosis is of overwhelming importance for the management and prognosis of mucocutaneous cancer. Actinic cheilitis (AC), defined by the clonal expansion of genomically unstable keratinocytes, is the most common potentially malignant lesion affecting the lips. Squamous cell carcinoma (SCC) is the most frequent oral malignancy, and there is strong evidence that the majority of the SCCs of the lip originate from AC.

Proteomic Approaches to Biomarker Discovery in Cutaneous T-Cell Lymphoma.

Cutaneous T-cell lymphoma (CTCL) is the most frequently encountered type of skin lymphoma in humans. CTCL encompasses multiple variants, but the most common types are mycosis fungoides (MF) and Sezary syndrome (SS). While most cases of MF run a mild course over a period of many years, other subtypes of CTCL are very aggressive.

Gene Expression and Proteome Analysis as Sources of Biomarkers in Basal Cell Carcinoma.

Basal cell carcinoma (BCC) is the world's leading skin cancer in terms of frequency at the moment and its incidence continues to rise each year, leading to profound negative psychosocial and economic consequences. UV exposure is the most important environmental factor in the development of BCC in genetically predisposed individuals, this being reflected by the anatomical distribution of lesions mainly on sun-exposed skin areas. Early diagnosis and prompt management are of crucial importance in order to prevent local tissue destruction and subsequent disfigurement.

Cardiovascular Mortality in Type 2 Diabetes Patients with Incident Exposure to Insulin Glargine.

The study investigated the impact of insulin glargine exposure on cardiovascular mortality in type 2 diabetes patients with incident insulin initiation. All consecutive diabetes patients aged >40 years were screened at their first diabetes outpatient visit between 01/01/2001 and 12/31/2008 (n = 79869). Exclusion criteria restricted the cohort to 4990 incident insulin users, aged 40-79 years, who were followed up for death until 12/31/2011.